Canonical Allele Identifier: CA2655894354

Gene: HPS4

Linked Data

• gnomAD v4: 22-26457725-AAAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457730_26457733del , CM000684.2:g.26457730_26457733del	GRCh38
NC_000022.10:g.26853696_26853699del , CM000684.1:g.26853696_26853699del	GRCh37
NC_000022.9:g.25183696_25183699del	NCBI36
NG_009763.2:g.31135_31138del , LRG_590:g.31135_31138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.2009+130_2009+133del	ENSP00000415081.3:n.2009+130_2009+133del
ENST00000473782.2:c.1955+130_1955+133del	ENSP00000514223.1:n.1955+130_1955+133del
ENST00000483631.2:c.1160+130_1160+133del	ENSP00000514228.1:n.1160+130_1160+133del
ENST00000491142.2:c.1955+130_1955+133del	ENSP00000514221.1:n.1955+130_1955+133del
ENST00000699226.1:n.4881+130_4881+133del
ENST00000699227.1:c.*1299+130_*1299+133del	ENSP00000514220.1:n.*1299+130_*1299+133del
ENST00000699228.1:n.2505+130_2505+133del
ENST00000699229.1:n.1372+130_1372+133del
ENST00000699230.1:n.2678+130_2678+133del
ENST00000699231.1:n.4967+130_4967+133del
ENST00000699232.1:n.3311+130_3311+133del
ENST00000699233.1:n.1826+130_1826+133del
ENST00000699234.1:c.*1299+130_*1299+133del	ENSP00000514222.1:n.*1299+130_*1299+133del
ENST00000699235.1:c.1160+130_1160+133del	ENSP00000514224.1:n.1160+130_1160+133del
ENST00000699236.1:c.*1144+130_*1144+133del	ENSP00000514225.1:n.*1144+130_*1144+133del
ENST00000699237.1:c.*1144+130_*1144+133del	ENSP00000514226.1:n.*1144+130_*1144+133del
ENST00000699238.1:c.*1498+130_*1498+133del	ENSP00000514227.1:n.*1498+130_*1498+133del
ENST00000699239.1:n.4709+130_4709+133del
ENST00000699240.1:c.*1612+130_*1612+133del	ENSP00000514229.1:n.*1612+130_*1612+133del
ENST00000699241.1:c.*2147+130_*2147+133del	ENSP00000514230.1:n.*2147+130_*2147+133del
ENST00000699242.1:c.1865+130_1865+133del	ENSP00000514231.1:n.1865+130_1865+133del
ENST00000699243.1:c.*1299+130_*1299+133del	ENSP00000514232.1:n.*1299+130_*1299+133del
ENST00000699244.1:c.1808+130_1808+133del	ENSP00000514233.1:n.1808+130_1808+133del
ENST00000699245.1:n.1247+130_1247+133del
ENST00000699246.1:c.*1326+130_*1326+133del	ENSP00000514234.1:n.*1326+130_*1326+133del
ENST00000699247.1:c.911+130_911+133del	ENSP00000514235.1:n.911+130_911+133del
ENST00000699248.1:n.3784-4325_3784-4322del
ENST00000699249.1:c.*1058-4325_*1058-4322del	ENSP00000514236.1:n.*1058-4325_*1058-4322del
ENST00000699250.1:c.1714-4325_1714-4322del	ENSP00000514237.1:n.1714-4325_1714-4322del
ENST00000699251.1:c.1955+130_1955+133del	ENSP00000514238.1:n.1955+130_1955+133del
ENST00000699252.1:n.2635_2638del
ENST00000398145.7:c.1955+130_1955+133del MANE Select	ENSP00000381213.2:n.1955+130_1955+133del
ENST00000336873.9:c.1955+130_1955+133del	ENSP00000338457.5:n.1955+130_1955+133del
ENST00000398145.6:c.1955+130_1955+133del	ENSP00000381213.2:n.1955+130_1955+133del
ENST00000402105.7:c.1940+130_1940+133del	ENSP00000384185.3:n.1940+130_1940+133del
ENST00000429411.5:c.*1527+130_*1527+133del	ENSP00000399705.1:n.*1527+130_*1527+133del
ENST00000439453.5:c.*1473+130_*1473+133del	ENSP00000406764.1:n.*1473+130_*1473+133del
ENST00000464362.5:c.*2286+130_*2286+133del	ENSP00000430291.1:n.*2286+130_*2286+133del
ENST00000466781.5:n.4814+130_4814+133del
ENST00000485842.5:n.646+130_646+133del
ENST00000493455.6:n.518+130_518+133del
ENST00000496385.5:n.2480-4325_2480-4322del
ENST00000519774.5:n.341+130_341+133del
NM_022081.5:c.1955+130_1955+133del , LRG_590t1:c.1955+130_1955+133del	NP_071364.4:n.1955+130_1955+133del
NM_152841.2:c.1940+130_1940+133del , LRG_590t2:c.1940+130_1940+133del	NP_690054.1:n.1940+130_1940+133del
NR_073135.1:n.2641+130_2641+133del
NR_073136.1:n.2403+130_2403+133del
XM_006724353.2:c.2009+130_2009+133del	XP_006724416.1:n.2009+130_2009+133del
XM_006724354.2:c.2009+130_2009+133del	XP_006724417.1:n.2009+130_2009+133del
XM_006724360.2:c.1442+130_1442+133del	XP_006724423.1:n.1442+130_1442+133del
XM_011530485.1:c.2087+130_2087+133del	XP_011528787.1:n.2087+130_2087+133del
XM_011530486.1:c.2087+130_2087+133del	XP_011528788.1:n.2087+130_2087+133del
XM_011530487.1:c.2087+130_2087+133del	XP_011528789.1:n.2087+130_2087+133del
XM_011530488.1:c.2087+130_2087+133del	XP_011528790.1:n.2087+130_2087+133del
XM_011530489.1:c.2087+130_2087+133del	XP_011528791.1:n.2087+130_2087+133del
XM_011530490.1:c.2033+130_2033+133del	XP_011528792.1:n.2033+130_2033+133del
XM_011530491.1:c.2087+130_2087+133del	XP_011528793.1:n.2087+130_2087+133del
XM_011530492.1:c.2087+130_2087+133del	XP_011528794.1:n.2087+130_2087+133del
XM_011530493.1:c.1846-4325_1846-4322del	XP_011528795.1:n.1846-4325_1846-4322del
XM_011530494.1:c.1295+130_1295+133del	XP_011528796.1:n.1295+130_1295+133del
XM_011530495.1:c.1442+130_1442+133del	XP_011528797.1:n.1442+130_1442+133del
XM_011530496.1:c.1295+130_1295+133del	XP_011528798.1:n.1295+130_1295+133del
XR_937947.1:n.2746+130_2746+133del
NM_001349896.1:c.1955+130_1955+133del	NP_001336825.1:n.1955+130_1955+133del
NM_001349898.1:c.1955+130_1955+133del	NP_001336827.1:n.1955+130_1955+133del
NM_001349899.1:c.1955+130_1955+133del	NP_001336828.1:n.1955+130_1955+133del
NM_001349900.1:c.2009+130_2009+133del	NP_001336829.1:n.2009+130_2009+133del
NM_001349901.1:c.2009+130_2009+133del	NP_001336830.1:n.2009+130_2009+133del
NM_001349902.1:c.1714-4325_1714-4322del	NP_001336831.1:n.1714-4325_1714-4322del
NM_001349903.1:c.1714-4325_1714-4322del	NP_001336832.1:n.1714-4325_1714-4322del
NM_001349904.1:c.1955+130_1955+133del	NP_001336833.1:n.1955+130_1955+133del
NM_001349905.1:c.1955+130_1955+133del	NP_001336834.1:n.1955+130_1955+133del
NR_146311.1:n.2732+130_2732+133del
NR_146312.1:n.2557+130_2557+133del
NR_146313.1:n.2577+130_2577+133del
NR_146314.1:n.2708+130_2708+133del
NR_146315.1:n.2648+130_2648+133del
NR_146316.1:n.2623+130_2623+133del
XM_006724360.3:c.1442+130_1442+133del	XP_006724423.1:n.1442+130_1442+133del
XM_011530485.2:c.2087+130_2087+133del	XP_011528787.1:n.2087+130_2087+133del
XM_011530486.2:c.2087+130_2087+133del	XP_011528788.1:n.2087+130_2087+133del
XM_011530487.2:c.2087+130_2087+133del	XP_011528789.1:n.2087+130_2087+133del
XM_011530488.2:c.2087+130_2087+133del	XP_011528790.1:n.2087+130_2087+133del
XM_011530489.2:c.2087+130_2087+133del	XP_011528791.1:n.2087+130_2087+133del
XM_011530490.3:c.2033+130_2033+133del	XP_011528792.1:n.2033+130_2033+133del
XM_011530491.3:c.2087+130_2087+133del	XP_011528793.1:n.2087+130_2087+133del
XM_011530492.2:c.2087+130_2087+133del	XP_011528794.1:n.2087+130_2087+133del
XM_011530493.3:c.1846-4325_1846-4322del	XP_011528795.1:n.1846-4325_1846-4322del
XM_011530494.2:c.1295+130_1295+133del	XP_011528796.1:n.1295+130_1295+133del
XM_011530495.2:c.1442+130_1442+133del	XP_011528797.1:n.1442+130_1442+133del
XM_011530496.2:c.1295+130_1295+133del	XP_011528798.1:n.1295+130_1295+133del
XM_017029045.2:c.2033+130_2033+133del	XP_016884534.1:n.2033+130_2033+133del
XM_017029046.2:c.1955+130_1955+133del	XP_016884535.1:n.1955+130_1955+133del
XM_017029047.2:c.1792-4325_1792-4322del	XP_016884536.1:n.1792-4325_1792-4322del
XM_017029052.2:c.1547+130_1547+133del	XP_016884541.1:n.1547+130_1547+133del
XM_017029053.1:c.1532+130_1532+133del	XP_016884542.1:n.1532+130_1532+133del
XM_017029056.2:c.1160+130_1160+133del	XP_016884545.1:n.1160+130_1160+133del
XM_017029061.2:c.1160+130_1160+133del	XP_016884550.1:n.1160+130_1160+133del
XM_017029062.2:c.1160+130_1160+133del	XP_016884551.1:n.1160+130_1160+133del
XM_017029063.2:c.1160+130_1160+133del	XP_016884552.1:n.1160+130_1160+133del
XM_017029064.2:c.1160+130_1160+133del	XP_016884553.1:n.1160+130_1160+133del
XM_024452298.1:c.1328+130_1328+133del	XP_024308066.1:n.1328+130_1328+133del
XM_024452299.1:c.1160+130_1160+133del	XP_024308067.1:n.1160+130_1160+133del
XM_024452300.1:c.1160+130_1160+133del	XP_024308068.1:n.1160+130_1160+133del
XR_001755361.2:n.2663+130_2663+133del
XR_001755364.1:n.2278-4325_2278-4322del
XR_001755366.2:n.3192+130_3192+133del
XR_002958721.1:n.2500-4325_2500-4322del
XR_937947.2:n.2741+130_2741+133del
NM_001349898.2:c.1955+130_1955+133del	NP_001336827.1:n.1955+130_1955+133del
NM_001349899.2:c.1955+130_1955+133del	NP_001336828.1:n.1955+130_1955+133del
NM_001349900.2:c.2009+130_2009+133del	NP_001336829.1:n.2009+130_2009+133del
NM_001349903.2:c.1714-4325_1714-4322del	NP_001336832.1:n.1714-4325_1714-4322del
NM_001349904.2:c.1955+130_1955+133del	NP_001336833.1:n.1955+130_1955+133del
NR_073136.2:n.2210+130_2210+133del
NR_146311.2:n.2652+130_2652+133del
NR_146313.2:n.2497+130_2497+133del
NR_146315.2:n.2568+130_2568+133del
NM_022081.6:c.1955+130_1955+133del MANE Select	NP_071364.4:n.1955+130_1955+133del
NR_146316.2:n.2543+130_2543+133del